Neurogenetic disorders (NeD) are a group of neurological conditions resulting from inherited genetic defects. By affecting the normal functioning of the nervous system, these diseases lead to serious problems in movement, cognition, and other body functions. In recent years, machine learning (ML) approaches have proven highly effective, enabling the analysis and processing of vast amounts of medical data. By analyzing genetic data, medical imaging, and other clinical data, these techniques can contribute to early diagnosis and more effective treatment of NeD. However, using these approaches is challenged by issues including data variability, model explainability, and the requirement for interdisciplinary collaboration. This paper investigates the impact of ML on healthcare diagnosis and care of common NeD, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and Multiple Sclerosis disease (MSD). The purpose of this research is to determine the opportunities and challenges of using these techniques in the field of neurogenetic medicine. Our findings show that using ML can increase the detection accuracy by 85 % and reduce the detection time by 60 %. Additionally, the use of these techniques in predicting patient prognosis has been 70 % more accurate than traditional methods. Ultimately, this research will enable medical professionals and researchers to leverage ML approaches in advancing the diagnostic and therapeutic processes of NeD by identifying the opportunities and challenges.

While total intracranial carotid artery calcification (ICAC) volume is an established stroke biomarker, growing evidence shows this aggregate metric ignores the critical influence of plaque location, since calcification in different segments carries distinct prognostic and procedural risks. However, a finer-grained, segment-specific quantification has remained technically infeasible. Conventional 3D models are forced to process downsampled volumes or isolated patches, sacrificing the global context required to resolve anatomical ambiguity and render reliable landmark localization. To overcome this, we reformulate the 3D challenge as a \textbf{Parallel Probabilistic Landmark Localization} task along the 1D axial dimension. We propose the \textbf{Depth-Sequence Transformer (DST)}, a framework that processes full-resolution CT volumes as sequences of 2D slices, learning to predict $N=6$ independent probability distributions that pinpoint key anatomical landmarks. Our DST framework demonstrates exceptional accuracy and robustness. Evaluated on a 100-patient clinical cohort with rigorous 5-fold cross-validation, it achieves a Mean Absolute Error (MAE) of \textbf{0.1 slices}, with \textbf{96\%} of predictions falling within a $\pm1$ slice tolerance. Furthermore, to validate its architectural power, the DST backbone establishes the best result on the public Clean-CC-CCII classification benchmark under an end-to-end evaluation protocol. Our work delivers the first practical tool for automated segment-specific ICAC analysis. The proposed framework provides a foundation for further studies on the role of location-specific biomarkers in diagnosis, prognosis, and procedural planning. Our code will be made publicly available.

In medical image segmentation, convolutional neural networks (CNNs) and transformers are dominant. For CNNs, given the local receptive fields of convolutional layers, long-range spatial correlations are captured through consecutive convolutions and pooling. However, as the computational cost and memory footprint can be prohibitively large, 3D models can only afford fewer layers than 2D models with reduced receptive fields and abstract levels. For transformers, although long-range correlations can be captured by multi-head attention, its quadratic complexity with respect to input size is computationally demanding. Therefore, either model may require input size reduction to allow more filters and layers for better segmentation. Nevertheless, given their discrete nature, models trained with patch-wise training or image downsampling may produce suboptimal results when applied on higher resolutions. To address this issue, here we propose the resolution-robust HNOSeg-XS architecture. We model image segmentation by learnable partial differential equations through the Fourier neural operator which has the zero-shot super-resolution property. By replacing the Fourier transform by the Hartley transform and reformulating the problem in the frequency domain, we created the HNOSeg-XS model, which is resolution robust, fast, memory efficient, and extremely parameter efficient. When tested on the BraTS'23, KiTS'23, and MVSeg'23 datasets with a Tesla V100 GPU, HNOSeg-XS showed its superior resolution robustness with fewer than 34.7k model parameters. It also achieved the overall best inference time (< 0.24 s) and memory efficiency (< 1.8 GiB) compared to the tested CNN and transformer models.

The labor-intensive nature of medical data annotation presents a significant challenge for respiratory disease diagnosis, resulting in a scarcity of high-quality labeled datasets in resource-constrained settings. Moreover, patient privacy concerns complicate the direct sharing of local medical data across institutions, and existing centralized data-driven approaches, which rely on amounts of available data, often compromise data privacy. This study proposes a federated few-shot learning framework with privacy-preserving mechanisms to address the issues of limited labeled data and privacy protection in diagnosing respiratory diseases. In particular, a meta-stochastic gradient descent algorithm is proposed to mitigate the overfitting problem that arises from insufficient data when employing traditional gradient descent methods for neural network training. Furthermore, to ensure data privacy against gradient leakage, differential privacy noise from a standard Gaussian distribution is integrated into the gradients during the training of private models with local data, thereby preventing the reconstruction of medical images. Given the impracticality of centralizing respiratory disease data dispersed across various medical institutions, a weighted average algorithm is employed to aggregate local diagnostic models from different clients, enhancing the adaptability of a model across diverse scenarios. Experimental results show that the proposed method yields compelling results with the implementation of differential privacy, while effectively diagnosing respiratory diseases using data from different structures, categories, and distributions.

Recent works have revisited the infamous task ``Name That Dataset'', demonstrating that non-medical datasets contain underlying biases and that the dataset origin task can be solved with high accuracy. In this work, we revisit the same task applied to popular open-source chest X-ray datasets. Medical images are naturally more difficult to release for open-source due to their sensitive nature, which has led to certain open-source datasets being extremely popular for research purposes. By performing the same task, we wish to explore whether dataset bias also exists in these datasets. To extend our work, we apply simple transformations to the datasets, repeat the same task, and perform an analysis to identify and explain any detected biases. Given the importance of AI applications in medical imaging, it's vital to establish whether modern methods are taking shortcuts or are focused on the relevant pathology. We implement a range of different network architectures on the datasets: NIH, CheXpert, MIMIC-CXR and PadChest. We hope this work will encourage more explainable research being performed in medical imaging and the creation of more open-source datasets in the medical domain. Our code can be found here: https://github.com/eedack01/x_ray_ds_bias.

Lacunes, which are small fluid-filled cavities in the brain, are signs of cerebral small vessel disease and have been clinically associated with various neurodegenerative and cerebrovascular diseases. Hence, accurate detection of lacunes is crucial and is one of the initial steps for the precise diagnosis of these diseases. However, developing a robust and consistently reliable method for detecting lacunes is challenging because of the heterogeneity in their appearance, contrast, shape, and size. To address the above challenges, in this study, we propose a lacune detection method using the Segment Anything Model (SAM), guided by point prompts from a candidate prompt generator. The prompt generator initially detects potential lacunes with a high sensitivity using a composite loss function. The SAM model selects true lacunes by delineating their characteristics from mimics such as the sulcus and enlarged perivascular spaces, imitating the clinicians strategy of examining the potential lacunes along all three axes. False positives were further reduced by adaptive thresholds based on the region-wise prevalence of lacunes. We evaluated our method on two diverse, multi-centric MRI datasets, VALDO and ISLES, comprising only FLAIR sequences. Despite diverse imaging conditions and significant variations in slice thickness (0.5-6 mm), our method achieved sensitivities of 84% and 92%, with average false positive rates of 0.05 and 0.06 per slice in ISLES and VALDO datasets respectively. The proposed method outperformed the state-of-the-art methods, demonstrating its effectiveness in lacune detection and quantification.

Recent works have revisited the infamous task ``Name That Dataset'', demonstrating that non-medical datasets contain underlying biases and that the dataset origin task can be solved with high accuracy. In this work, we revisit the same task applied to popular open-source chest X-ray datasets. Medical images are naturally more difficult to release for open-source due to their sensitive nature, which has led to certain open-source datasets being extremely popular for research purposes. By performing the same task, we wish to explore whether dataset bias also exists in these datasets. To extend our work, we apply simple transformations to the datasets, repeat the same task, and perform an analysis to identify and explain any detected biases. Given the importance of AI applications in medical imaging, it's vital to establish whether modern methods are taking shortcuts or are focused on the relevant pathology. We implement a range of different network architectures on the datasets: NIH, CheXpert, MIMIC-CXR and PadChest. We hope this work will encourage more explainable research being performed in medical imaging and the creation of more open-source datasets in the medical domain. Our code can be found here: https://github.com/eedack01/x_ray_ds_bias.

Traditional tuberculosis (TB) screening involves radiologists manually reviewing chest X-rays (CXR), which is time-consuming, error-prone, and limited by workforce shortages. Our AI model, AIRIS-TB (AI Radiology In Screening TB), aims to address these challenges by automating the reporting of all X-rays without any findings. AIRIS-TB was evaluated on over one million CXRs, achieving an AUC of 98.51% and overall false negative rate (FNR) of 1.57%, outperforming radiologists (1.85%) while maintaining a 0% TB-FNR. By selectively deferring only cases with findings to radiologists, the model has the potential to automate up to 80% of routine CXR reporting. Subgroup analysis revealed insignificant performance disparities across age, sex, HIV status, and region of origin, with sputum tests for suspected TB showing a strong correlation with model predictions. This large-scale validation demonstrates AIRIS-TB's safety and efficiency in high-volume TB screening programs, reducing radiologist workload without compromising diagnostic accuracy.

Brucella spondylitis (BS) and tuberculous spondylitis (TS) are prevalent spinal infections with distinct treatment protocols. Rapid and accurate differentiation between these two conditions is crucial for effective clinical management; however, current imaging and pathogen-based diagnostic methods fall short of fully meeting clinical requirements. This study explores the feasibility of employing deep learning (DL) models based on conventional magnetic resonance imaging (MRI) to differentiate BS and TS. A total of 310 subjects were enrolled in our hospital, comprising 209 with BS, 101 with TS. The participants were randomly divided into a training set (n = 217) and a test set (n = 93). And 74 with other hospital was external validation set. Integrating Convolutional Block Attention Module (CBAM) into the ResNeXt-50 architecture and training the model using sagittal T2-weighted images (T2WI). Classification performance was evaluated using the area under the receiver operating characteristic (AUC) curve, and diagnostic accuracy was compared against general models such as ResNet50, GoogleNet, EfficientNetV2, and VGG16. The CBAM-ResNeXt model revealed superior performance, with accuracy, precision, recall, F1-score, and AUC from 0.942, 0.940, 0.928, 0.934, 0.953, respectively. These metrics outperformed those of the general models. The proposed model offers promising potential for the diagnosis of BS and TS using conventional MRI. It could serve as an invaluable tool in clinical practice, providing a reliable reference for distinguishing between these two diseases.

To evaluate the efficacy of the "double-low" scanning protocol combined with the artificial intelligence iterative reconstruction (AIIR) algorithm for abdominal computed tomography (CT) enhancement in obese patients and to identify the optimal AIIR algorithm level. Patients with a body mass index ≥ 30.00 kg/m² who underwent abdominal CT enhancement were randomly assigned to groups A or B. Group A underwent conventional protocol with the Karl 3D iterative reconstruction algorithm at levels 3-5. Group B underwent the "double-low" protocol with AIIR algorithm at levels 1-5. Radiation dose, total iodine intake, along with subjective and objective image quality were recorded. The optimal reconstruction levels for arterial-phase and portal-venous-phase images were identified. Comparisons were made in terms of radiation dose, iodine intake, and image quality. Overall, 150 patients with obesity were collected, and each group consisted of 75 cases. Karl 3D level 5 was the optimal algorithm level for group A, while AIIR level 4 was the optimal algorithm level for group B. AIIR level 4 images in group B exhibited significantly superior subjective and objective image quality than those in Karl 3D level 5 images in group A (P < 0.001). Group B showed reductions in mean CT dose index values, dose-length product, size-specific dose estimate based on water-equivalent diameter, and total iodine intake, compared with group A (P < 0.001). The "double-low" scanning protocol combined with the AIIR algorithm significantly reduces radiation dose and iodine intake during abdominal CT enhancement in obese patients. AIIR level 4 is the optimal reconstruction level for arterial-phase and portal-venous-phase in this patient population.